RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia
Autor(a) principal: | |
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Data de Publicação: | 2011 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Genetics and Molecular Biology |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000200005 |
Resumo: | Cleidocranial dysplasia (CCD) is an autosomal dominant human skeletal disorder comprising hypoplastic clavicles, wide cranial sutures, supernumerary teeth, short stature, and other skeletal abnormalities. It is known that mutations in the human RUNX2 gene mapped at 6p21 are responsible for CCD. We analyzed the mutation patterns of the RUNX2 gene by direct sequencing in six Taiwanese index cases with typical CCD. One of the patients was a familial case and the others were sporadic cases. Sequencing identified four mutations. Three were caused by single nucleotide substitutions, which created a nonsense (p.R391X), two were missense mutations (p.R190W, p.R225Q), and the forth was a novel mutation (c.1119delC), a one-base deletion. Real time quantitative PCR adapted to determine copy numbers of the promoter, all exons and the 3'UTR region of the RUNX2 gene detected the deletion of a single allele in a sporadic case. The results extend the spectrum of RUNX2 mutations in CCD patients and indicate that complete deletions of the RUNX2 gene should be considered in those CCD patients lacking a point mutation detected by direct sequencing. |
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RUNX2 mutations in Taiwanese patients with cleidocranial dysplasiacleidocranial dysplasiaCCDRUNX2RUNX2 deletion mutationCleidocranial dysplasia (CCD) is an autosomal dominant human skeletal disorder comprising hypoplastic clavicles, wide cranial sutures, supernumerary teeth, short stature, and other skeletal abnormalities. It is known that mutations in the human RUNX2 gene mapped at 6p21 are responsible for CCD. We analyzed the mutation patterns of the RUNX2 gene by direct sequencing in six Taiwanese index cases with typical CCD. One of the patients was a familial case and the others were sporadic cases. Sequencing identified four mutations. Three were caused by single nucleotide substitutions, which created a nonsense (p.R391X), two were missense mutations (p.R190W, p.R225Q), and the forth was a novel mutation (c.1119delC), a one-base deletion. Real time quantitative PCR adapted to determine copy numbers of the promoter, all exons and the 3'UTR region of the RUNX2 gene detected the deletion of a single allele in a sporadic case. The results extend the spectrum of RUNX2 mutations in CCD patients and indicate that complete deletions of the RUNX2 gene should be considered in those CCD patients lacking a point mutation detected by direct sequencing.Sociedade Brasileira de Genética2011-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000200005Genetics and Molecular Biology v.34 n.2 2011reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S1415-47572011005000002info:eu-repo/semantics/openAccessLin,Wei-DeLin,Shuan-PeiWang,Chung-HsingTsai,YushinChen,Chih-PingTsai,Fuu-Jeneng2011-06-02T00:00:00Zoai:scielo:S1415-47572011000200005Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2011-06-02T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false |
dc.title.none.fl_str_mv |
RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia |
title |
RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia |
spellingShingle |
RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia Lin,Wei-De cleidocranial dysplasia CCD RUNX2 RUNX2 deletion mutation |
title_short |
RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia |
title_full |
RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia |
title_fullStr |
RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia |
title_full_unstemmed |
RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia |
title_sort |
RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia |
author |
Lin,Wei-De |
author_facet |
Lin,Wei-De Lin,Shuan-Pei Wang,Chung-Hsing Tsai,Yushin Chen,Chih-Ping Tsai,Fuu-Jen |
author_role |
author |
author2 |
Lin,Shuan-Pei Wang,Chung-Hsing Tsai,Yushin Chen,Chih-Ping Tsai,Fuu-Jen |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Lin,Wei-De Lin,Shuan-Pei Wang,Chung-Hsing Tsai,Yushin Chen,Chih-Ping Tsai,Fuu-Jen |
dc.subject.por.fl_str_mv |
cleidocranial dysplasia CCD RUNX2 RUNX2 deletion mutation |
topic |
cleidocranial dysplasia CCD RUNX2 RUNX2 deletion mutation |
description |
Cleidocranial dysplasia (CCD) is an autosomal dominant human skeletal disorder comprising hypoplastic clavicles, wide cranial sutures, supernumerary teeth, short stature, and other skeletal abnormalities. It is known that mutations in the human RUNX2 gene mapped at 6p21 are responsible for CCD. We analyzed the mutation patterns of the RUNX2 gene by direct sequencing in six Taiwanese index cases with typical CCD. One of the patients was a familial case and the others were sporadic cases. Sequencing identified four mutations. Three were caused by single nucleotide substitutions, which created a nonsense (p.R391X), two were missense mutations (p.R190W, p.R225Q), and the forth was a novel mutation (c.1119delC), a one-base deletion. Real time quantitative PCR adapted to determine copy numbers of the promoter, all exons and the 3'UTR region of the RUNX2 gene detected the deletion of a single allele in a sporadic case. The results extend the spectrum of RUNX2 mutations in CCD patients and indicate that complete deletions of the RUNX2 gene should be considered in those CCD patients lacking a point mutation detected by direct sequencing. |
publishDate |
2011 |
dc.date.none.fl_str_mv |
2011-01-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000200005 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572011000200005 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S1415-47572011005000002 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Sociedade Brasileira de Genética |
publisher.none.fl_str_mv |
Sociedade Brasileira de Genética |
dc.source.none.fl_str_mv |
Genetics and Molecular Biology v.34 n.2 2011 reponame:Genetics and Molecular Biology instname:Sociedade Brasileira de Genética (SBG) instacron:SBG |
instname_str |
Sociedade Brasileira de Genética (SBG) |
instacron_str |
SBG |
institution |
SBG |
reponame_str |
Genetics and Molecular Biology |
collection |
Genetics and Molecular Biology |
repository.name.fl_str_mv |
Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG) |
repository.mail.fl_str_mv |
||editor@gmb.org.br |
_version_ |
1752122384094068736 |